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Primary hyperoxaluria type 1 MeSH Supplementary Concept Data 2024


MeSH Supplementary
Primary hyperoxaluria type 1
Unique ID
C536414
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536414
Entry Term(s)
Alanine-glyoxylate aminotransferase deficiency
Glycolic aciduria
Hepatic AGT Deficiency
Hyperoxaluria, Primary, Type I
Oxalosis 1
Oxalosis I
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
Peroxisomal alanine glyoxylate aminotransferase deficiency
Serine:Pyruvate Aminotransferase Deficiency
Registry Number
0
Heading Mapped to
*Hyperoxaluria, Primary
Frequency
191
Note
An autosomal recessive form of primary hyperoxaluria, where CALCIUM OXALATE accumulates in different tissues, especially the KIDNEY, resulting in RENAL FAILURE. Mutations in the AGXT gene have been identified. OMIM: 259900
Date of Entry
2010/08/25
Revision Date
2015/08/18
Primary hyperoxaluria type 1 Preferred
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